banner
Genes Phenotypes Help, News, Blog

Gene: Wasf1 MGI:1890563

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
WASP family, member 1
Synonyms:
WAVE,  Scar,  WAVE-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Wasf1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Wasf1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Self-injurious behavior, Ventriculomegaly OMIM:618707

The table below shows human diseases predicted to be associated to Wasf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lissencephaly 4
Short stature, Babinski sign, Simplified gyral pattern, Growth delay, Colpocephaly, Hypertonia, L... OMIM:614019
Spastic Paraplegia 45, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Dysplastic corpus callosum, Babinski sign, Spasti... OMIM:613162
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Ataxia, Microcephaly, Dysplastic corpus callosum, Tongue fasciculations,... OMIM:618276
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Stxbp1-Related Encephalopathy
Hyperactivity, Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Spastic... ORPHA:599373
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Dysplastic corpus callosum, Growth delay, High palate, Primary microcephaly,... OMIM:618010
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Leukoencephalopathy,... OMIM:611105
Sandhoff Disease, Adult Form
Dystonia, Tremor, Focal dystonia, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakne... ORPHA:309169
Huntington Disease-Like 2
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Abnormal cerebral morp... ORPHA:98934
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Ataxia, Spinal muscular atrophy, Microcephaly, Hand tremor, Limb ... OMIM:607596
Lissencephaly, X-Linked, 1
Ataxia, Postnatal growth retardation, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus c... OMIM:300067
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se... OMIM:620317
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Huntington Disease
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ... ORPHA:399
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Ataxia, Tremor, Abnormal pyramidal sign, Leukoencephalopathy, Abnormality... OMIM:614561
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, A... OMIM:607317
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia OMIM:613217
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Limb hypertonia, Colpocephaly, Hypoplasia of the corpus callosum, Lower li... ORPHA:401815
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Intrinsic hand muscle ... ORPHA:276435
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Intrauterine growth r... OMIM:620270
Leukoencephalopathy, Progressive, With Ovarian Failure
Apraxia, Ataxia, Babinski sign, Hand tremor, Leukoencephalopathy, Spasticity, Lateral ventricle d... OMIM:615889
Juvenile Huntington Disease
Hyperactivity, Neuronal loss in basal ganglia, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia... ORPHA:248111
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive, Thin corpus call... OMIM:619651
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations OMIM:182980
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Spastic tetraparesis, Microcephaly, Aggressive behavior, Tremor, Hydrocephalus, El... OMIM:619470
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Weight loss ORPHA:52416
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Spasticity, Polymicrog... OMIM:600348
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations OMIM:615048
Alexander Disease Type I
Ataxia, Cachexia, Palatal tremor, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Abnormal ce... ORPHA:363717
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Tongue atrophy, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyra... ORPHA:216873
Martsolf Syndrome 2
Short stature, Camptodactyly of finger, Microcephaly, Spastic diplegia, Lateral ventricle dilatat... OMIM:619420
2,4-Dienoyl-Coa Reductase Deficiency
Incoordination, Ataxia, Clonus, Microcephaly, Hydrocephalus, Cerebral atrophy, Tetraplegia, Chore... OMIM:616034
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly OMIM:611808
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Distal amyotrophy, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Hsd10 Disease
Ataxia, Microcephaly, Postnatal growth retardation, Tremor, Rigidity, Gastrointestinal dysmotilit... ORPHA:391417
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Villous atrophy, Abnormal intestine morphology OMIM:251850
Bilateral Generalized Polymicrogyria
Short stature, Oculogyric crisis, Microcephaly, Oral-pharyngeal dysphagia, Diffuse white matter a... ORPHA:208447
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Ventriculomegaly, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dys... ORPHA:2524
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Rag... OMIM:613662
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, ... OMIM:614602
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Cerebral cortical ... ORPHA:306669
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... ORPHA:251282
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Spastic tetraparesis, Microcephaly, Flexion contracture, Cerebral atrophy, Joint... OMIM:601110
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Aganglionic megacolon, Microcephaly, Hypoplastic anterior limbs... ORPHA:171680
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait ataxia, Growth delay, Hypoplasia of the corpus callos... ORPHA:488635
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia, Dysphagia OMIM:615945
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Agenesis of corpus callosum OMIM:610245
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Failure to thrive, Protein-losing enteropathy OMIM:615863
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus... OMIM:615924
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Abnormal pyramidal ... OMIM:614833
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Ataxia, Hydrocephalus, Babinski sign ORPHA:73256
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Babinski sign, Leukoencephalop... OMIM:221770
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... OMIM:619473
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Short stature, Microcephaly, Spastic tetrap... OMIM:605013
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Reduced cerebral white matter volume, Involuntary movements, Pro... OMIM:620352
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Colpocephaly, Pachygyria, Decreased liver function OMIM:614870
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Cerebral hy... ORPHA:101071
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Small for gestational age, Ataxia, Microcephaly, Partial agenesis of the corpus... ORPHA:79243
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Christianson Syndrome
Decreased muscle mass, Dystonia, Cachexia, Microcephaly, Truncal ataxia, Aplasia/Hypoplasia of th... ORPHA:85278
Idiopathic Achalasia
Weight loss, Gastroesophageal reflux, Dysphagia ORPHA:930
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dys... ORPHA:521406
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Limb joint contracture, Spastic tetraparesis, Ankle flexion contrac... ORPHA:284417
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Abnormal basal gangl... ORPHA:157941
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hepatic failure, Protein-losing enteropathy, Hepatic fibrosis, Cir... OMIM:602579
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, High, narrow palate, Hydrocephalus, Ileus, ... OMIM:620156
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Oromotor apraxia, Clumsiness, Bradykines... OMIM:617854
Mucolipidosis Iv
Achlorhydria, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski sign, S... OMIM:252650
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, High palate, Hypoplasia of the corpus callosu... OMIM:300983
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... ORPHA:300605
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Short stature, Small for gestational age, Clonus, Microcephaly, Ba... OMIM:619847
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnorm... ORPHA:3032
Hyperphenylalaninemia, Bh4-Deficient, C
Cerebral calcification, Dystonia, Microcephaly, Tremor, Choreoathetosis, Hypertonia, Myoclonus, D... OMIM:261630
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Lateral ventricle dilatation, Increased variability in muscle fiber diameter, Hypoplasi... OMIM:616816
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral atrophy, Gait ataxi... OMIM:611302
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramid... OMIM:615362
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cer... OMIM:617668
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Short stature, Splenomegaly, Enterocolitis, Failure to thrive OMIM:616050
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Appendicular spasticity, Cerebral palsy, Microcephaly, Dysplastic corpus callosum, Flexion contra... OMIM:620001
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Failure to thrive, Cerebral palsy, Short stature, Ataxia, Microcephaly, Aggressive behavior, Hydr... OMIM:619833
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasci... OMIM:615157
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Dysplastic corpus callosum, Obesity, Hemiparesis, Hypertonia, Secondary microcephaly, Per... OMIM:619737
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... OMIM:159950
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Spastic tetraparesis... OMIM:614924
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Basal ganglia calcification, Hypertonia, Hepatic fibrosis, Hepatic steato... OMIM:619487
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Microcephaly, Tremor, Cerebral atrophy, Basal ganglia cysts, Choreoath... OMIM:312170
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Decreased muscle mass, ... ORPHA:298
Pulmonary Blastoma
Weight loss ORPHA:64741
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Myoclonus, ... ORPHA:97229
Cach Syndrome
Microcephaly, Flexion contracture, Truncal ataxia, Cerebral atrophy, Dysmetria, Growth delay, Lim... ORPHA:135
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Microcephaly, Cleft palate, Growth delay, Lateral ventricle dilatation, Br... OMIM:615716
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Hepatomegaly, Villous atrophy, Elevated hepatic transaminase, Ataxia, M... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Short stature, Dysplastic corpus callosum, Secondary microcephaly, Generalized amyo... OMIM:619423
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Microcephaly, Tremor, Chorea, Babinski sign, ... ORPHA:397946
Choreoacanthocytosis
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia... ORPHA:2388
Lopes-Maciel-Rodan Syndrome
Caudate atrophy, Dystonia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Dysphagia, Ankle cl... OMIM:617435
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Microcephaly, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular... OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb atax... OMIM:616719
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor, Gastrointestinal dysmotility, Cerebral atrophy, Dysphagia, Weakness of facial mus... OMIM:618637
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Joint contracture, Cerebral... OMIM:618266
Chronic Hiccup
Weight loss, Abnormality of the diaphragm, Abnormal eating behavior ORPHA:396
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Spastic tetraplegia, Colpocephaly, Pseudobu... OMIM:618651
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Lateral ventri... ORPHA:77299
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Microcephaly, Tremor, Growth delay, Choreoathetosis, ... OMIM:612716
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Hepatomegaly, Microcephaly, Lateral ventricle dilata... ORPHA:79326
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... OMIM:302800
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... OMIM:607458
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Hypoplasia of the c... OMIM:617916
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Bradykinesia, Dysphagia, Hypomimic face OMIM:128235
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay ORPHA:79238
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Severe short stature, Ataxia, Proportionate short stature, Spastic tetra... ORPHA:3208
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... ORPHA:240103
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Microcephaly, Tremor, Growth delay, Spasticity OMIM:278780
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation... OMIM:619517
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Cavitation of the basal ganglia, Writer's cramp, Ataxia, Parkinsonism, Tremor, Rigidity... OMIM:606159
Oculopharyngodistal Myopathy 4
Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var... OMIM:619790
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Diffuse cerebral atrophy, Severe temper tantrums, Ataxia, Aggressive beh... OMIM:617710
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate, Weight loss ORPHA:141152
4H Leukodystrophy
Dystonia, Short stature, Ataxia, Tremor, Dysphagia, Dysmetria, Striatal T2 hyperintensity, Progre... ORPHA:289494
Refractory Celiac Disease
Elevated hepatic transaminase, Villous atrophy, Malabsorption, Weight loss, Protein-losing entero... ORPHA:398063
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overweight, Paraparesis, Obesity, Gen... ORPHA:2822
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... OMIM:613443
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Tongue thrusting, Limb myoclonus, ... ORPHA:3095
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Abnorma... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 31
Posterior atrophy of corpus callosum, Dystonia, Ataxia, Tremor, Cerebral atrophy, Dysphagia, Grow... OMIM:619422
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Hyperactivity, Short stature, Aggressive behavior, Tremor, Cortical... OMIM:300354
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Glutathionuria
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
Isaacs Syndrome
Calf muscle hypertrophy, Fasciculations, Weight loss ORPHA:84142
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Microcephaly, Tremor, Rigidity, Choreo... OMIM:261640
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia... ORPHA:572798
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Type 2 muscle fiber predominance, ... OMIM:619028
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ... ORPHA:90362
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Involuntary movements, Microcephaly, Corpus callosum atrophy, Babinski sig... ORPHA:565624
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Leukoencephalopathy, Gait ataxia, Dysmetria, Distal amyotrophy, Limb muscle weakn... OMIM:618387
Laryngeal Neuroendocrine Tumor
Weight loss, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Ataxia, Impulsivity, Microcephaly, Tremor, Abnormality of coordination, Involuntar... ORPHA:442835
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation, Progressive spasticity OMIM:619972
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Short stature, Microcephaly, Corpus callosum atrophy, Tremor, Babinski s... OMIM:616586
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal p... ORPHA:363400
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc... OMIM:619725
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly ORPHA:2576
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis,... OMIM:209920
Chylomicron Retention Disease
Growth delay, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steat... OMIM:246700
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Weight... OMIM:137440
Immunodeficiency 31C
Skeletal muscle atrophy, Villous atrophy, Hepatomegaly, Short stature, Splenomegaly, Weight loss,... OMIM:614162
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Hypertonia, Camptoda... OMIM:604273
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver... ORPHA:65682
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m... ORPHA:93958
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Flexion contracture, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myoclonus, Dysphag... ORPHA:2590
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Cerebral palsy, Flexion contracture, Poor gross motor coordination... ORPHA:2148
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... ORPHA:905
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Cerebral atrophy, Dysmetria, Clumsiness, Poor fine motor coordi... ORPHA:79263
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the corpus callosum, Spasti... OMIM:618890
Tuberculosis
Weight loss ORPHA:3389
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Facial hypotonia, Microcephaly, Tre... OMIM:300055
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Small for gestational age, Microcephaly, Severe postnatal growth retard... ORPHA:3078
Progressive Supranuclear Palsy
Impulsivity, Depression, Abnormal synaptic transmission, Dementia, Cognitive impairment, Dysphagi... ORPHA:683
Leukoencephalopathy With Vanishing White Matter 5
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... OMIM:620315
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ve... OMIM:607485
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Anorexia, Weight loss ORPHA:86893
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Failure to thrive in... ORPHA:488627
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Failure to thrive, Duodenitis OMIM:614328
Pontocerebellar Hypoplasia, Type 13
Microcephaly, Gait ataxia, Lateral ventricle dilatation, High palate, Decreased liver function, H... OMIM:618606
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Hyperactivity, Short stature, Microcephaly, Aggressive behavior, Tremor, High palat... OMIM:618342
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus, Hepatitis, Failure to thrive, Ventriculomegaly OMIM:304790
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Cerebral calcification, Microcephaly, Tremor, Rigidity, Splenomegaly, Dystonia, Int... OMIM:615010
Glutaric Acidemia I
Hepatomegaly, Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral v... OMIM:231670
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Gro... ORPHA:70594
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Small for gestational age, Intrauterine growth retardation OMIM:620135
Microcephaly 26, Primary, Autosomal Dominant
Ventriculomegaly, Failure to thrive, Short stature, Spastic tetraparesis, Microcephaly, Protrudin... OMIM:619179
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia OMIM:600116
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Cerebral calcification, Ventriculomegaly, Exaggerated startle response, Facial-lin... OMIM:617281
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Basal ganglia calcification, Chorea, Rigidity, Abnormal pyramidal sign, Bra... OMIM:213600
X-Linked Creatine Transporter Deficiency
Hyperactivity, Short stature, Ataxia, Cachexia, Microcephaly, Aganglionic megacolon, Chorea, Ileu... ORPHA:52503
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Ataxia, Clonus, Hypoplastic anterior ... OMIM:615673
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Mild postnatal growth retardation, Ataxia, Facial palsy, Foot joint contracture, Hy... ORPHA:456312
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Delayed puberty, Babinski sign, Dysmetr... OMIM:607694
Developmental And Epileptic Encephalopathy 46
Microcephaly, Tremor, Cerebral atrophy, Dysphagia, Failure to thrive, Limb hypertonia OMIM:617162
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Dystonia, Ataxia, Postnatal growth retardation, ... ORPHA:357058
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Growth delay, Hypertonia, Hy... OMIM:619738
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Congenita... ORPHA:300570
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Limb dystonia, Pallidal degeneration, Dystonia, Ataxia, Poor motor c... ORPHA:25
Rett Syndrome
Skeletal muscle atrophy, Dystonia, Short stature, Cachexia, Gait apraxia, Truncal ataxia, Gait at... OMIM:312750
Neuroferritinopathy
Caudate atrophy, Writer's cramp, Chorea, Focal dystonia, Abnormal caudate nucleus morphology, Par... ORPHA:157846
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Ir... ORPHA:329284
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tremor, Diffuse white matter abnormalities, Flexion contracture, Limb tr... OMIM:218000
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, ... OMIM:213200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Macroglossia, Hypoplasia of the corpus callosum, Ab... OMIM:616900
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinsonism with favorable re... ORPHA:240085
Pelizaeus-Merzbacher Disease
Generalized dystonia, Short stature, Writer's cramp, Cerebral dysmyelination, Microcephaly, Tremo... OMIM:312080
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Cerebral calcification, Short stature, Ataxia, Cachexia, Microcephaly, V... ORPHA:1933
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Resting tremor, Short stature, Parkinsonism, Anorexia, Aggr... ORPHA:3077
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Truncal ataxia, Dysmetria, Adductor l... OMIM:210000
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Failure to thrive, High palate, Weight loss OMIM:620045
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Global Developmental Delay With Or Without Impaired Intellectual Development
Poor fine motor coordination, Lateral ventricle dilatation, Short stature OMIM:618330
Immunodeficiency 85 And Autoimmunity
Growth delay, Villous atrophy, Failure to thrive in infancy OMIM:619510
4Q21 Microdeletion Syndrome
Tremor, Growth delay, Agenesis of corpus callosum, Self-injurious behavior, Intrauterine growth r... ORPHA:238750
Slc35A2-Cdg
Elevated hepatic transaminase, Cerebral white matter atrophy, Short stature, Failure to thrive in... ORPHA:356961
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dila... OMIM:618914
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Short stature, Failure to thrive in infancy, Agangl... ORPHA:388
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Even-Plus Syndrome
Severe short stature, Dysplastic corpus callosum, High palate, Agenesis of corpus callosum, Anal ... OMIM:616854
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Short stature, Small for gestational age, Microcephaly, Tremor, Abnorm... OMIM:300957
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Small for gestational age, Short stature, Abnormality of the pancr... OMIM:222470
Netherton Syndrome
Villous atrophy, Failure to thrive, Recurrent infection of the gastrointestinal tract, Intestinal... OMIM:256500
Leukoencephalopathy With Calcifications And Cysts
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl... ORPHA:542310
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, High palate, Fr... OMIM:619995
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Cerebral infarct, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar a... ORPHA:254881
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Dysphagia, Weight loss, Opisthotonus, Attention deficit hyperactivity disor... ORPHA:216866
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Pancreat... OMIM:557000
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Hyperintensity of cerebral white matter on MRI, Opisthotonus, Limb dystonia... OMIM:617013
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight ORPHA:1672
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Microcephaly, Tremor, Abnormal pyramidal sign, Aplasia/Hypoplasia of the ... ORPHA:765
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Malabsorption OMIM:600955
Gm1 Gangliosidosis
Generalized dystonia, Short stature, Ataxia, Dystonia, Camptodactyly of finger, Tremor, Splenomeg... ORPHA:354
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Corpus callosum atro... ORPHA:228360
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Ulcerative colitis, Weight loss, Growth delay, Inflammation of the large ... OMIM:266600
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Diffuse cerebral atrophy, Short stature, Ataxia, Poor motor coordinatio... ORPHA:1170
Giant Axonal Neuropathy 1, Autosomal Recessive
Facial palsy, Spastic paraplegia, Abnormal pyramidal sign, Distal amyotrophy, Lateral ventricle d... OMIM:256850
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Cachexia, Anorexia, Malabsorption, Splenomegaly, Furrowed ton... ORPHA:2930
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Splenomegaly, Growth delay, Inflammation of the large intest... OMIM:614700
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Perisylvian polymicrogyria, Flexion contrac... OMIM:618291
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Hypoplasia of the corpus callosum, Spasticity, Failure to thrive OMIM:616494
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Growth ... OMIM:614381
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... OMIM:618736
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Rigidity, Parkinsonism with favorable respon... ORPHA:411602
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Large for gestational age, Dysplastic corpus callosum, Celiac disease, Periv... ORPHA:544488
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia ORPHA:50251
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyral pattern, Cerebral at... OMIM:619244
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ventriculomegaly, Lactose intolerance, Ataxia, Microcephaly, Overweight, T... OMIM:619229
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Truncal ataxia, Cerebral atrophy, Clumsine... ORPHA:137898
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Microcephaly, Lateral ventricle dilatation, Hypoplasia o... OMIM:617751
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... OMIM:605355
Proximal 16P11.2 Microduplication Syndrome
Abnormal basal ganglia MRI signal intensity, Short stature, Congenital diaphragmatic hernia, Micr... ORPHA:370079
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disinhibition,... OMIM:168605
Hereditary Central Diabetes Insipidus
Growth delay, Polydipsia, Weight loss ORPHA:30925
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Small for gestational age, Short stature, Gastritis, Splenomegaly,... ORPHA:84064
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Microcephaly, Babinski sign, Flexion contracture, Narrow palate... OMIM:618186
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Microcephaly, Cerebral... OMIM:616801
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Malabsorption, Weight loss ORPHA:42642
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Type II lissence... OMIM:613154
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Ataxia, Intestinal pseudo-obstruction, Centrally nucle... OMIM:607459
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria, Limb... OMIM:614219
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Spastic paraplegia, Obesity, Cerebral atrophy, Lateral v... OMIM:617296
Moynahan Syndrome
Short stature, Cachexia, Microcephaly ORPHA:2574
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Microcephaly, Tremor, Rigidity, Head titubation, Truncal ataxia, Cerebral... OMIM:618877
Joubert Syndrome 3
Frontal polymicrogyria, Enlarged fossa interpeduncularis, Ataxia, Lateral ventricle dilatation, O... OMIM:608629
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Villous atrophy, Small for gestational age, Necrotizing enteroc... OMIM:619573
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Basal ganglia calcification, Babinski sign, Flexion contracture, Dysmetria, Gait ... OMIM:616505
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment ORPHA:309246
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Asparagine Synthetase Deficiency
Caudate atrophy, Clonus, Reduced cerebral white matter volume, Tremor, Cortical dysplasia, Simpli... OMIM:615574
Craniosynostosis 6
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... OMIM:616602
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Calf muscle hypertrophy, Fasciculations, Dysphagia, Limb muscle weakness OMIM:313200
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Hypointensity of cerebral white matter on MRI, Intestinal pseudo-obstruction... OMIM:603041
Distal Deletion 10Q
Scapular winging, Short stature, Clonus, Ataxia, Microcephaly, Postnatal growth retardation, Aggr... ORPHA:96148
Cog5-Cdg
Elevated hepatic transaminase, Hepatomegaly, Diffuse cerebral atrophy, Cerebral white matter atro... ORPHA:263487
Alg9-Cdg
Lower limb spasticity, Torticollis, Villous atrophy, Rhizomelia, Hepatomegaly, Hypoplasia of the ... ORPHA:79328
Renpenning Syndrome
Skeletal muscle atrophy, Severe short stature, Cachexia, Microcephaly, High, narrow palate, Cleft... ORPHA:3242
Caroli Disease
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Intr... ORPHA:53035
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia ORPHA:157973
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Tay-Sachs Disease
Skeletal muscle atrophy, Hypointensity of cerebral white matter on MRI, Tremor, Dysmetria, Decere... ORPHA:845
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Weight loss ORPHA:391
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Leukodystrophy, Hypomyelinating, 6
Short stature, Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apra... OMIM:612438
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal... OMIM:620113
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Occipital encephalocele, Ventriculomegaly, Failure to thrive, Shor... ORPHA:397715
Cerebrofacioarticular Syndrome
Anal stenosis, Short stature, Ataxia, Microcephaly, Dysplastic corpus callosum, Anteriorly placed... ORPHA:314679
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microcephaly, Lateral ventricle dilatation, High palate, Hypoplasia of the corpus callosum, Dysto... OMIM:614105
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Hepatosplenomegaly OMIM:606367
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Microcephaly, Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, H... ORPHA:457240
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Weight loss ORPHA:178029
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abnormal peritoneum morphology, Intestinal obstruction, Weig... ORPHA:26790
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... ORPHA:1876
Pyruvate Carboxylase Deficiency
Hepatomegaly, Cerebral white matter atrophy, Failure to thrive, Ataxia, Dystonia, Anorexia, Tremo... ORPHA:3008
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Self-injurious behavior... OMIM:620075
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Microcephaly, Elbow flexion contracture, Spastic tetrap... ORPHA:371364
Erythrokeratodermia Variabilis
Weight loss, Short stature, Microcephaly ORPHA:317
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Splenomegaly, Growth delay ORPHA:100025
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Alexander Disease
Cerebral calcification, Ataxia, Clonus, Facial palsy, Megalencephaly, Aqueductal stenosis, Tremor... ORPHA:58
Ddost-Cdg
Elevated hepatic transaminase, Short stature, Tremor, Oromotor apraxia, Gastroesophageal reflux, ... ORPHA:300536
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Weight loss, Hematochezia,... ORPHA:2070
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Small for gestational age, Microcephaly OMIM:619278
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Ataxia, Cachexia, Anorexia, Malabsorption, S... ORPHA:3452
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Cachexia, Myopathy,... ORPHA:42
Joubert Syndrome With Renal Defect
Encephalocele, Ataxia, Aganglionic megacolon, Tremor, Hydrocephalus, Cleft palate, Oculomotor apr... ORPHA:220497
Fanconi Anemia, Complementation Group I
Short stature, Absent septum pellucidum, Microcephaly, Colpocephaly, Decreased body weight, Intra... OMIM:609053
Kapur-Toriello Syndrome
Intestinal malrotation, Pachygyria, Dysplastic corpus callosum, Failure to thrive, Polymicrogyria ORPHA:2328
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre... OMIM:128100
Medullary Thyroid Carcinoma
Weight loss, Abnormal liver parenchyma morphology, Dysphagia ORPHA:1332
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Polyminimyoclo... OMIM:619574
Rhabdoid Tumor
Hemiplegia, Neoplasm of the liver, Cerebral palsy, Weight loss ORPHA:69077
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor... ORPHA:2494
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, ... ORPHA:52368
Reticular Dysgenesis
Malabsorption, Failure to thrive, Weight loss ORPHA:33355
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Weiss-Kruszka Syndrome
Colpocephaly, Hypoplasia of the corpus callosum, Left ventricular hypertrophy, Agenesis of corpus... OMIM:618619
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... ORPHA:144
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Wolman Disease
Hepatomegaly, Cachexia, Splenomegaly, Esophageal varix, Growth delay, Steatorrhea, Hepatic failure ORPHA:75233
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ataxia, Aggressive behavior, Pyloric stenosis, Submucous cleft h... ORPHA:457279
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, High, narrow palate, Hydrocephalus, Submucous cleft hard palate, Growth delay, An... OMIM:612863
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Tracheoesophageal fistula, Weight loss, Abnormal skeletal muscle morphology... ORPHA:142
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Protruding tongue, Cessation of head gro... ORPHA:98794
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Weight loss ORPHA:100024
Malan Overgrowth Syndrome
Lateral ventricle dilatation, High palate, Hypoplasia of the corpus callosum, Episodic ataxia, Ve... ORPHA:420179
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Cerebral white matter atrophy, Ventriculomegaly, Ataxia, Torticollis, Tremor, Rigid... OMIM:617186
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Short stature, Cachexia, Microcephaly, Ataxia, Choreoathetosis, Dys... ORPHA:702
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Failure to thrive, Short stature, Overweight, High, narrow palate, Hydrocephalus, Head-banging, H... OMIM:619575
Oculopharyngodistal Myopathy 1
Ataxia, Autophagic vacuoles, Facial palsy, Tremor, Weight loss, Abnormal cerebral white matter mo... OMIM:164310
Glutamine Deficiency, Congenital
Flexion contracture, Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus c... OMIM:610015
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... ORPHA:466768
Classic Phenylketonuria
Cerebral calcification, Microcephaly, Tremor, Paraplegia, Growth delay, Self-injurious behavior, ... ORPHA:79254
Neurodegeneration With Brain Iron Accumulation 4
Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign,... OMIM:614298
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... ORPHA:440437
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Cerebral calcification, Short stature, Chorea, Disproporti... ORPHA:1855
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Fatty ... ORPHA:329478
Flynn-Aird Syndrome
Skeletal muscle atrophy, Cerebral calcification, Ataxia, Cachexia, Cerebral cortical atrophy ORPHA:2047
Fatal Familial Insomnia
Ataxia, Weight loss, Cerebral cortex with spongiform changes, Myoclonus, Dysphagia OMIM:600072
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity OMIM:176500
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Ey... OMIM:300894
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Fatty replacement of skeletal muscle, Vocal cord paralysis, Myopathy, Dysphagia, Increase... ORPHA:397744
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Dystonia, Short stature, Ataxia, Mic... OMIM:615356
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal pyramidal si... ORPHA:240071
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Joubert Syndrome With Ocular Defect
Encephalocele, Ataxia, Aganglionic megacolon, Tremor, Hydrocephalus, Cleft palate, Oculomotor apr... ORPHA:220493
Citrullinemia Type Ii
Elevated hepatic transaminase, Restlessness, Hyperactivity, Hepatomegaly, Aggressive behavior, Ab... ORPHA:247585
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Cerebral calcification, Short stature, Ataxia, Postnatal growth re... OMIM:212750
X-Linked Intellectual Disability, Wilson Type
Growth delay, Lateral ventricle dilatation, Microcephaly ORPHA:85290
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Functional intestinal obstruction, Inte... ORPHA:1333
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... OMIM:613280
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Rhizomelia, Weight loss, Severe short-limb dwarfism, Failure to thrive ORPHA:1842
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Small for gestational age, Elev... OMIM:614866
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Absent septum pellucidum, Congenital diaphragmatic hernia, Microcephaly, Hydroceph... OMIM:309801
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Head-banging, Intrinsic hand muscle atrophy, Hypoplasia... OMIM:618569
Metachromatic Leukodystrophy
Incoordination, Ataxia, Abnormal stomach morphology, Tremor, Neoplasm of the gallbladder, Abnorma... ORPHA:512
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Craniofacial ... ORPHA:48818
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral calcification, Microcephaly, Lateral ventri... OMIM:617397
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Spasticity, Hepatomegaly OMIM:618810
Infantile Krabbe Disease
Lower limb spasticity, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, C... ORPHA:206436
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions, Short stature ORPHA:557003
X-Linked Agammaglobulinemia
Short stature, Malabsorption, Hepatitis, Weight loss, Glossoptosis, Failure to thrive ORPHA:47
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Short stature, Cachexia ORPHA:2471
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Weight loss ORPHA:507
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Angelman Syndrome
Abnormality of the gastrointestinal tract, Hyperactivity, Ataxia, Cerebral dysmyelination, Microc... ORPHA:72
Immunodeficiency 27A
Splenomegaly, Hepatosplenomegaly, Anorexia, Weight loss OMIM:209950
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Weight loss ORPHA:545
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Short stature, Esophageal carcinoma, Enterocolitis, Hepatitis, Hepatosplenomegal... ORPHA:391487
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable ... ORPHA:199351
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... ORPHA:99027
Congenital Disorder Of Glycosylation, Type Iig
Short stature, Rhizomelia, Failure to thrive in infancy, Microcephaly, Postnatal growth retardati... OMIM:611209
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Malabsorption, Anorexia, Hypersplenism, Weight ... ORPHA:98850
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Ileus, Weight loss ORPHA:83469
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... OMIM:618056
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los... OMIM:175500
Holocarboxylase Synthetase Deficiency
Growth delay, Ataxia, Anorexia, Weight loss ORPHA:79242
Bainbridge-Ropers Syndrome
Failure to thrive, Intestinal malrotation, Microcephaly, Growth delay, Self-injurious behavior, L... OMIM:615485
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Microcephaly, Hep... OMIM:208085
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia,... OMIM:168600
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Short stature, Cachexia ORPHA:1389
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Abnormality of the liv... ORPHA:254892
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Majeed Syndrome
Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Flexion contracture, Weight loss, Failure to... ORPHA:77297
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Anorexia, Abnormal muscle fiber morphology, Weight los... ORPHA:732
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the gallbladder, Ade... ORPHA:171
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Cerebral atrophy, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperact... OMIM:234200
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Splenomegaly, Hepatitis, Weight loss, Colit... OMIM:619381
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Abnormality of the spleen, Abnormality of the liver, W... ORPHA:33276
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Basal ganglia calcification, Hypertonia, Hepatic steatosis, Hepatomegaly, Int... OMIM:615846
Gabriele-De Vries Syndrome
Facial hypotonia, Tremor, Cortical dysplasia, Lateral ventricle dilatation, Distal arthrogryposis... OMIM:617557
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Occipital encephalocele, Hepatomegaly, Ataxia, Portal hypertension... ORPHA:1454
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Short stature, Intestinal malrotation, Microcephaly, Tremor, Abnormality... ORPHA:94063
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Microcephaly, Aggressive behavior, High, narrow palate, Cerebral atrophy, Cleft p... ORPHA:464738
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnormality of the liver, Compu... ORPHA:646
Khan-Khan-Katsanis Syndrome
Short stature, Microcephaly, Colpocephaly, Hypertonia, Dysphagia, Intrauterine growth retardation... OMIM:618460
Takayasu Arteritis
Gastrointestinal infarctions, Anorexia, Weight loss ORPHA:3287
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Gastrointestinal dysmotility, ... OMIM:270400
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Microcephaly, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft... OMIM:301043
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Weight loss OMIM:191390
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Anorexia, Weight loss, Agitation, Extrapyramidal dyskinesia, Oral aversion,... ORPHA:134
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Hepatic steatosis, Viral hepatitis, Portal inflammation, Chronic h... ORPHA:101330
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Acrodermatitis Enteropathica
Short stature, Anorexia, Malabsorption, Weight loss, Furrowed tongue, Failure to thrive, Glossiti... ORPHA:37
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ataxia, Anorexia, Microcephaly, ... ORPHA:20
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... ORPHA:93941
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Dystonia, Ataxia, Facial hypotonia, Impulsivity, Aggre... ORPHA:2131
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Weight loss ORPHA:103910
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Short stature, Camptodactyly of finger, Cachexia, Aggressive behavior, Microcephal... ORPHA:85293
8P23.1 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Microcephaly, Obesity, Weight loss, Growth delay,... ORPHA:251071
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss ORPHA:160148
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Weight loss OMIM:613239
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Weight loss ORPHA:2221
Mosaic Trisomy 9
Intestinal malrotation, Camptodactyly of finger, Microcephaly, Spina bifida, Asplenia, Cleft pala... ORPHA:99776
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Weight loss ORPHA:1164
16Q24.3 Microdeletion Syndrome
Colpocephaly, High palate, Hypoplasia of the corpus callosum, Dysphagia, Ventriculomegaly ORPHA:261250
Lenz-Majewski Hyperostotic Dwarfism
Short stature, Microcephaly, Dysplastic corpus callosum, Elbow flexion contracture, Spina bifida ... OMIM:151050
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Splenomegaly, Weigh... ORPHA:465508
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculo... ORPHA:240094
Malignant Peritoneal Mesothelioma
Peritonitis, Ileus, Weight loss ORPHA:168811
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Ventriculomegaly, Dysplastic corpus callosum, Velopharyngeal insufficiency, Camptodactyly, Anal a... ORPHA:363444
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Paralysis, Abnormality of the spleen, Hydrocephalus, Spastic paraplegia, Esophageal var... ORPHA:2072
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Short stature, Microcephaly, Lateral ventricle dilatation, Hyperton... OMIM:618367
Alveolar Echinococcosis
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery mor... ORPHA:284
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus ... OMIM:617260
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... ORPHA:100085
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysplastic corpus callosum, Hig... OMIM:300967
Genitourinary And/Or Brain Malformation Syndrome
Jejunal atresia, Absent septum pellucidum, Ileal atresia, Dysplastic corpus callosum, Colpocephal... OMIM:618820
Trisomy 18
Short stature, Camptodactyly of finger, Cachexia, Microcephaly, Congenital diaphragmatic hernia, ... ORPHA:3380
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Short stature, Cachexia ORPHA:884
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis, Weight loss OMIM:188580
Silver-Russell Syndrome
Decreased muscle mass, Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth re... ORPHA:813
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Hip contracture, Hepatomegaly, Absent septum pellucidum, Microcephaly, Lar... OMIM:300868
Focal Myositis
Myositis, Weight loss ORPHA:48918
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon, Cachexia ORPHA:1438
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, H... ORPHA:85450
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ata... OMIM:606002
Aicardi Syndrome
Spina bifida, Microcephaly, Postnatal growth retardation, Dilated third ventricle, Partial agenes... OMIM:304050
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Leg muscle stiff... OMIM:615530
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Anorexia, Jaundice, Weight loss, Lower limb muscle weaknes... ORPHA:370348
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Jaundice, Cerebral atrophy, Growth delay, Hypertonia, Secondary microce... OMIM:617248
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Short stature, Ataxia, Microcephaly, Colpocephaly, High palate, Gastroesophageal reflux, Dystonia... OMIM:620083
Aredyld Syndrome
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation ORPHA:1133
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Myositis, Malabsorption, Hemiplegia/hemiparesis, Weight loss, Gastroesoph... ORPHA:183
Zttk Syndrome
Absent gallbladder, Failure to thrive, Short stature, Dysplastic corpus callosum, Submucous cleft... OMIM:617140
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Dystonia, Small for gestational age, Facial hypotonia, Oral-pharyng... ORPHA:506358
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Melena ORPHA:100080
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Tremor, Splenomegaly, Jaundice, Cerebral atrophy, Myopathy, Prolonged ne... OMIM:615512
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Xerostomia,... ORPHA:85443
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esophagus morpho... ORPHA:1018
Weaver Syndrome
Absent septum pellucidum, Diastasis recti, Slurred speech, Poor fine motor coordination, Lateral ... OMIM:277590
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation ORPHA:424
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Hematochezia, Melena ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Hematochezia, Melena ORPHA:100082
Wilson Disease
Acute hepatic failure, Hepatocellular carcinoma, Tremor, Hand tremor, Limb dystonia, Hepatic stea... OMIM:277900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Cerebral calcification, Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyr... OMIM:612199
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, C... ORPHA:100086
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Failure to thrive in infancy, Proportionate short stature, Weight loss ORPHA:171876
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Cachexia, Anorexia, Splenomegaly, Hepatosplenomegaly ORPHA:824
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss ORPHA:99868
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle di... ORPHA:293725
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Weight loss ORPHA:3226
Eosinophilic Fasciitis
Myositis, Muscular edema, Weight loss ORPHA:3165
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Cachexia, Weight loss ORPHA:1979
Prader-Willi Syndrome Due To Translocation
Short stature, Microcephaly, Obesity, Head-banging, Cleft palate, Lateral ventricle dilatation, B... ORPHA:177907
Mosaic Trisomy 1
Hepatic agenesis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contrac... ORPHA:1692
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Partial agenesis of the corpus callosum, Flexion contracture, Microlissencephaly, Knee flexion co... OMIM:210710
Parkinson Disease 4, Autosomal Dominant
Lewy bodies, Parkinsonism, Weight loss OMIM:605543
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss... ORPHA:679
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Growth delay, Lateral ventricle dilatation OMIM:612301
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Anor... ORPHA:97278
Diaphanospondylodysostosis
Disproportionate short-trunk short stature, Cleft palate, Abnormal liver lobulation, Intrauterine... OMIM:608022
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Short stature, Small for gestational age, Microcephaly, Lateral ventric... OMIM:619869
6Q Terminal Deletion Syndrome
Failure to thrive, High, narrow palate, Obesity, Dysmetria, Gait ataxia, Abnormal cerebral white ... ORPHA:75857
Glossopharyngeal Neuralgia
Odynophagia, Weight loss, Vocal cord paralysis, Oral-pharyngeal dysphagia ORPHA:221098
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Malabsorption,... ORPHA:537
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Anor... ORPHA:97283
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Steatorrhea, Hemiplegia ORPHA:3217
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum OMIM:300952
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Short stature, Cachexia, Microcephaly, Hydrocephalus, Spasticity ORPHA:220295
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Severe short stature, Cachexia, Microcephaly, Poor coordination, F... OMIM:610965
Wild Type Attr Amyloidosis
Hepatomegaly, Gastrointestinal dysmotility, Weight loss ORPHA:330001
Keppen-Lubinsky Syndrome
Spastic tetraparesis, Microcephaly, Flexion contracture, Opisthotonus, Lateral ventricle dilatati... OMIM:614098
Nephroblastoma
Neoplasm of the liver, Weight loss ORPHA:654
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Cachexia, Hypersplenism, Microvesi... ORPHA:275761
Giant Cell Arteritis
Ataxia, Anorexia, Weight loss, Gastrointestinal infarctions, Hepatic failure, Glossitis ORPHA:397
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Ankle flexion cont... ORPHA:2020
Aicardi-Goutières Syndrome
Myositis, Cerebral calcification, Multiple joint contractures, Tremor, Porencephalic cyst, Abnorm... ORPHA:51
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Gastrointestinal dysmotilit... ORPHA:67
Grfoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Anor... ORPHA:97261
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Speech apraxia, Ataxia, Aggressive behavior, Dysplastic corpus callosum, High, narrow palate, Pse... ORPHA:466791
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Weight loss ORPHA:767
Cockayne Syndrome
Skeletal muscle atrophy, Cerebral calcification, Basal ganglia calcification, Progressive gait at... ORPHA:191
Cystinosis, Nephropathic
Skeletal muscle atrophy, Hepatomegaly, Cerebral calcification, Short stature, Failure to thrive i... OMIM:219800
Noonan Syndrome 14
Scapular winging, High, narrow palate, Lateral ventricle dilatation, Short stature OMIM:619745
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Tetraplegia, Weight... ORPHA:79102
Fanconi Anemia
Anal atresia, Short stature, Aganglionic megacolon, Spina bifida, Microcephaly, Aplasia/Hypoplasi... ORPHA:84
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Hematemesis, Weight loss, Melena, Zollinge... ORPHA:100075
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Malabsorption, Intrahepatic cholestasis, Extrah... ORPHA:97282
Late-Onset Isolated Acth Deficiency
Anorexia, Celiac disease, Hepatitis, Weight loss, Failure to thrive ORPHA:199299
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Myoclonus, Weight loss OMIM:256700
Bronchial Neuroendocrine Tumor
Hepatomegaly, Hepatic failure, Anorexia, Weight loss ORPHA:97287
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Abnormality of the pancreas, Liver abscess, Weight loss ORPHA:54251
19Q13.11 Microdeletion Syndrome
Cachexia, Microcephaly, Growth delay, Intrauterine growth retardation, Failure to thrive ORPHA:217346
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastrointestinal dysmotility, Simplified gyral pattern, Gastroesophageal reflux, Bifid uvula, Abs... ORPHA:500150
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Facial palsy, Abnormal repetitive mannerisms, High, narrow palate, ... OMIM:615873
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Rectal prolapse, Adeno... ORPHA:79076
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Clonus, Oculomotor apraxia, Colpocephaly, Lower limb hypertonia, Hypoplasia of the corpus callosu... ORPHA:477993
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Anor... ORPHA:97280
Early Infantile Epileptic Encephalopathy
Diffuse cerebral atrophy, Hyperactivity, Failure to thrive, Microcephaly, Tremor, Diffuse white m... ORPHA:1934
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Neur... OMIM:601104
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Hepatitis, Weight loss, Hepa... ORPHA:781
Igg4-Related Aortitis
Intestinal obstruction, Weight loss ORPHA:449400
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Anorexia, Short hard palate ORPHA:1969
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg... ORPHA:729
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hyperactivity, Short stature, Intestinal malrotation, Impu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hyperactivity, Short stature, Intestinal malrotation, Impu... ORPHA:353277
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
African Trypanosomiasis
Abnormal basal ganglia MRI signal intensity, Hepatomegaly, Abnormal central motor function, Invol... ORPHA:3385
White-Kernohan Syndrome
Dysplastic corpus callosum, Obesity, Anteriorly placed anus, Gastroesophageal reflux, Rectovagina... OMIM:619426
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Skeletal muscle atrophy, Short stature, Cachexia, Abnormal large intestine ... ORPHA:109
Parkinson Disease 21
Parkinsonism, Tremor, Rigidity, Bradykinesia, Lewy bodies OMIM:616361
Felty Syndrome
Splenomegaly, Hepatomegaly, Weight loss ORPHA:47612
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Weight loss ORPHA:2902
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor, Duodenal ulcer OMIM:190310
Acute Monoblastic/Monocytic Leukemia
Anorexia, Weight loss ORPHA:514
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:276621
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Lateral ventricle... OMIM:263520
Chronic Beryllium Disease
Weight loss ORPHA:133
Osteosarcoma
Weight loss ORPHA:668
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Weight loss, Lower-limb joint contracture, Apraxia, Pancreatic hypoplasia, Intrauterine g... ORPHA:99885
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Small for gestational age, Ataxia, Microcephaly, Tremor, Microvesicular hepatic steatos... OMIM:220111
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Myositis, Failure to thrive in infancy, Gastritis, Cachexia, Malab... ORPHA:37042
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Neoplasm of the liver, Weight loss ORPHA:2126
Familial Glucocorticoid Deficiency
Tetraplegia, Failure to thrive, Anorexia, Weight loss ORPHA:361
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Yao Syndrome
Xerostomia, Weight loss OMIM:617321
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flexion contracture, Lateral ventricle dilatation, Disproportionate short-limb short stature, Hyp... OMIM:619479
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Short stature, Shoulder flexion contracture, Cachexia, ... ORPHA:800
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Weight loss ORPHA:324964
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Esophageal str... ORPHA:36426
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Weight loss ORPHA:33577
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Gastrointes... ORPHA:100078
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Anal stenosis, Short stature, Cachexia, Microcephaly, Rhabdomyosarcoma, ... ORPHA:647
Loeffler Endocarditis
Left ventricular hypertrophy, Weight loss ORPHA:75566
Bullous Pemphigoid
Weight loss ORPHA:703
Thymoma
Neoplasm of the gastrointestinal tract, Myositis, Ulcerative colitis, Weight loss ORPHA:99867
Riddle Syndrome
Short stature, Ataxia, Microcephaly, Weight loss, Clumsiness, Abnormal cerebral white matter morp... ORPHA:420741
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Gastroesophageal reflux, Pachygyria, Agenesis of corpus callosum, Self-mutilation, B... OMIM:607872
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Short Syndrome
Severe short stature, Weight loss ORPHA:3163
Microsporidiosis
Myositis, Cholangitis, Cachexia, Anorexia, Abnormality of the spleen, Peritonitis, Biliary tract ... ORPHA:2552
Rheumatoid Arthritis
Digital flexor tenosynovitis, Weight loss OMIM:180300
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Extr... ORPHA:913
Genitopatellar Syndrome
Hip contracture, Anal stenosis, Microcephaly, Malrotation of small bowel, Knee flexion contractur... OMIM:606170
Liposarcoma
Weight loss ORPHA:69078
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Hepatitis, Elevated hepatic transaminase, Weight loss ORPHA:139402
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia, Microcephaly ORPHA:2058
Mucolipidosis Type Ii
Hip contracture, Short stature, Diastasis recti, Postnatal growth retardation, Splenomegaly, Knee... ORPHA:576
Brucellosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Liver abscess, Small for gestational age... ORPHA:1304
Witteveen-Kolk Syndrome
Hyperactivity, Short stature, Small for gestational age, Poor motor coordination, Microcephaly, A... OMIM:613406
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Growth delay, Colitis, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309031
Kabuki Syndrome 1
Anal stenosis, Short stature, Intestinal malrotation, Microcephaly, Postnatal growth retardation,... OMIM:147920
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss ORPHA:86884
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss OMIM:613673
Lymphoid Interstitial Pneumonia
Hepatomegaly, Failure to thrive, Weight loss ORPHA:79128
Behçet Disease
Gastrointestinal hemorrhage, Myositis, Ataxia, Anorexia, Malabsorption, Splenomegaly, Abnormal py... ORPHA:117
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Peptic ulcer, Weight loss ORPHA:98849
Systemic Capillary Leak Syndrome
Pancreatitis, Weight loss ORPHA:188
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Calcinosis, Myositis, Weight loss, Dysphagia ORPHA:93672
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:29072
Acute Adrenal Insufficiency
Salt craving, Anorexia, Weight loss, Delayed puberty, Failure to thrive ORPHA:95409
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Weight loss ORPHA:97289
Addison Disease
Salt craving, Anorexia, Celiac disease, Weight loss, Delayed puberty, Failure to thrive ORPHA:85138
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, Weight loss ORPHA:91139
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hepatomegaly, Ataxia, Facial palsy, Cachexia, Anorexia, Splenomegaly, De... ORPHA:1328
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Malabsorption, Anorexia, Weight loss ORPHA:79430
Imerslund-Gräsbeck Syndrome
Failure to thrive, Glossitis, Weight loss ORPHA:35858
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Erdheim-Chester Disease
Retroperitoneal fibrosis, Polydipsia, Ataxia, Weight loss ORPHA:35687
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Gastroesophageal reflux, Hepatic fibrosis, Intrahepatic bile duct dilatation... OMIM:619534
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Peptic ulcer, Weight loss, Dysphagia, Polydipsia, Pancreatitis ORPHA:143
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Flexion contracture, Mild postnatal growth retardation, Weight loss ORPHA:85408
Castleman Disease
Abnormality of the gastrointestinal tract, Intestinal obstruction, Jaundice, Weight loss ORPHA:160
Pemphigus Vulgaris
Weight loss ORPHA:704
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Increased body weight, Biliary cirrhosis, Weight loss, Decreased body... ORPHA:2298
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Perianal abscess, Weight loss, Inflammation of the large intestine, Colitis, A... OMIM:301074
Pneumocystosis
Weight loss ORPHA:723
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Elevated hepatic iron concent... OMIM:619991
Congenital Disorder Of Glycosylation, Type Iim
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, High palate, Gastroesophageal reflu... OMIM:300896
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Ataxia, A... ORPHA:50918
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia, Microcephaly ORPHA:808
Postinfectious Vasculitis
Viral hepatitis, Anorexia, Gastrointestinal inflammation, Weight loss, Unusual gastrointestinal i... ORPHA:48435
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Anorexia, Esophageal stricture, Flexion contracture, Xerostomia, W... ORPHA:99921
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Sarcoidosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Facial palsy, Portal hypertension, Weigh... ORPHA:797
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Duodenal ulcer, Peptic ulcer, Anorexia, Hematemesis, Insulinoma, Weight... ORPHA:652
Poems Syndrome
Weight loss ORPHA:2905
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cleft hard palate, Asplenia, Flexion contracture, Large basal ganglia, Abnormal repetitive manner... ORPHA:261537
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Weight loss ORPHA:49041
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Inflammation of the large intestine, Abnormal ... OMIM:181000
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Hemiplegia, Pancreatitis ORPHA:900
Rat-Bite Fever
Tendonitis, Pancreatitis, Parotitis, Weight loss ORPHA:31205
Tsh-Secreting Pituitary Adenoma
Tremor, Weight loss, Periodic hypokalemic paresis, Delayed puberty ORPHA:91347
Marfan Syndrome
Skeletal muscle atrophy, Cachexia, High, narrow palate, Meningocele, Cleft palate, Attention defi... ORPHA:558
Stickler Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Hemiplegia/hemiparesis, Short hard palate, Clef... ORPHA:828
Pancreatoblastoma
Jaundice, Pancreatic calcification, Weight loss ORPHA:677
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cleft hard palate, Asplenia, Flexion contracture, Large basal ganglia, Abnormal repetitive manner... ORPHA:261552
Multiple Myeloma
Splenomegaly, Functional abnormality of the gastrointestinal tract, Weight loss ORPHA:29073
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Xerostomia, Weight loss, Enlargement of parotid gland, Abnorm... ORPHA:79078
Familial Thrombocytosis
Splenomegaly, Weight loss ORPHA:71493
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Neoplasm of the stomach, Anor... ORPHA:99889
Nocardiosis
Peritonitis, Liver abscess, Anorexia, Weight loss ORPHA:31204
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Norrie Disease
Clonus, Cachexia, Microcephaly, Self-injurious behavior, Hypertonia, Attention deficit hyperactiv... ORPHA:649
Reactive Arthritis
Inflammation of the large intestine, Weight loss ORPHA:29207
Pyomyositis
Myositis, Weight loss ORPHA:764
Igg4-Related Kidney Disease
Retroperitoneal fibrosis, Abnormal mesentery morphology, Weight loss, Sclerosing cholangitis, Cho... ORPHA:449395
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Dermatomyositis
Gastrointestinal stroma tumor, Inflammatory myopathy, Weight loss ORPHA:221
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Weight loss ORPHA:60025
Hutchinson-Gilford Progeria Syndrome
Weight loss, High palate, Severe failure to thrive, Delayed menarche, Ankyloglossia ORPHA:740
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Short stature, Weight loss ORPHA:90794
Malt Lymphoma
Weight loss ORPHA:52417
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Abnormality of coordination, Ataxia, ... ORPHA:79318
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Weight loss ORPHA:91500
Proteus Syndrome
Splenomegaly, Myofibrillar myopathy, Decreased muscle mass, Cachexia ORPHA:744
Tropical Endomyocardial Fibrosis
Splenomegaly, Hepatomegaly, Myocardial calcification, Cachexia ORPHA:75565
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Self-injurious behavior, Ventriculomegaly OMIM:618707
Goodpasture Syndrome
Weight loss OMIM:233450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Wasf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wasf1.

No publications found that use IMPC mice or data for Wasf1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Wasf1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Wasf1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter